UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8622_8623insCCCCCCCCCC | CA2573105020 | MT-ATP6 | c.96_97insCCCCCCCCCC (p.Thr33ProfsTer?) | |
| MT | m.8622dup | CA2740098147 | MT-ATP6 | c.96dup (p.Thr33HisfsTer?) | |
| MT | m.8620C>A | CA414796979 | MT-ATP6 | c.94C>A (p.Pro32Thr) | |
| MT | m.8620C= | CA2573329951 | MT-ATP6 | c.94C= (p.Pro32=) | |
| MT | m.8620C>G | CA414796982 | MT-ATP6 | c.94C>G (p.Pro32Ala) | |
| MT | m.8620C>T | CA414796984 | MT-ATP6 | c.94C>T (p.Pro32Ser) | |
| MT | m.8621C>A | CA414796993 | MT-ATP6 | c.95C>A (p.Pro32His) | |
| MT | m.8621C= | CA2573329952 | MT-ATP6 | c.95C= (p.Pro32=) | |
| MT | m.8621C>G | CA414796991 | MT-ATP6 | c.95C>G (p.Pro32Arg) | |
| MT | m.8621C>T | CA414796988 | MT-ATP6 | c.95C>T (p.Pro32Leu) | |
| MT | m.8622C>A | CA913179481 | MT-ATP6 | c.96C>A (p.Pro32=) | |
| MT | m.8622C= | CA2499565792 | MT-ATP6 | c.96C= (p.Pro32=) | |
| MT | m.8622C>G | CA913179482 | MT-ATP6 | c.96C>G (p.Pro32=) | dbSNP |
| MT | m.8622C>T | CA913179483 | MT-ATP6 | c.96C>T (p.Pro32=) | dbSNP |
| MT | m.8623A= | CA2499565795 | MT-ATP6 | c.97A= (p.Thr33=) | |
| MT | m.8623A>C | CA414796997 | MT-ATP6 | c.97A>C (p.Thr33Pro) | ClinVar dbSNP |
| MT | m.8623A>G | CA414797000 | MT-ATP6 | c.97A>G (p.Thr33Ala) | ClinVar dbSNP |
| MT | m.8623A>T | CA414797002 | MT-ATP6 | c.97A>T (p.Thr33Ser) | ClinVar dbSNP |
| MT | m.8624C>A | CA414797006 | MT-ATP6 | c.98C>A (p.Thr33Asn) | |
| MT | m.8624C= | CA2499565798 | MT-ATP6 | c.98C= (p.Thr33=) | |
| MT | m.8624C>G | CA414797008 | MT-ATP6 | c.98C>G (p.Thr33Ser) | |
| MT | m.8624C>T | CA414797011 | MT-ATP6 | c.98C>T (p.Thr33Ile) | ClinVar dbSNP |
| MT | m.8625C>A | CA913179489 | MT-ATP6 | c.99C>A (p.Thr33=) | |
| MT | m.8625C= | CA2573329960 | MT-ATP6 | c.99C= (p.Thr33=) | |
| MT | m.8625C>G | CA913179485 | MT-ATP6 | c.99C>G (p.Thr33=) | |
| MT | m.8625C>T | CA913179484 | MT-ATP6 | c.99C>T (p.Thr33=) | |
| MT | m.8626T>A | CA414797015 | MT-ATP6 | c.100T>A (p.Ser34Thr) | |
| MT | m.8626T>C | CA414797018 | MT-ATP6 | c.100T>C (p.Ser34Pro) | ClinVar dbSNP |
| MT | m.8626T>G | CA414797019 | MT-ATP6 | c.100T>G (p.Ser34Ala) | |
| MT | m.8626T= | CA2499565800 | MT-ATP6 | c.100T= (p.Ser34=) | |
| MT | m.8627C>A | CA414797025 | MT-ATP6 | c.101C>A (p.Ser34Tyr) | |
| MT | m.8627C= | CA2573329963 | MT-ATP6 | c.101C= (p.Ser34=) | |
| MT | m.8627C>G | CA414797027 | MT-ATP6 | c.101C>G (p.Ser34Cys) | |
| MT | m.8627C>T | CA414797029 | MT-ATP6 | c.101C>T (p.Ser34Phe) | |
| MT | m.8628C>A | CA913179493 | MT-ATP6 | c.102C>A (p.Ser34=) | |
| MT | m.8628C= | CA2499565802 | MT-ATP6 | c.102C= (p.Ser34=) | |
| MT | m.8628C>G | CA913179492 | MT-ATP6 | c.102C>G (p.Ser34=) | |
| MT | m.8628C>T | CA913179491 | MT-ATP6 | c.102C>T (p.Ser34=) | dbSNP |
| MT | m.8629A= | CA2573329965 | MT-ATP6 | c.103A= (p.Lys35=) | |
| MT | m.8629A>C | CA414797039 | MT-ATP6 | c.103A>C (p.Lys35Gln) | |
| MT | m.8629A>G | CA414797035 | MT-ATP6 | c.103A>G (p.Lys35Glu) | |
| MT | m.8629A>T | CA414797034 | MT-ATP6 | c.103A>T (p.Lys35Ter) | |
| MT | m.8630A= | CA2573329966 | MT-ATP6 | c.104A= (p.Lys35=) | |
| MT | m.8630A>C | CA414797043 | MT-ATP6 | c.104A>C (p.Lys35Thr) | |
| MT | m.8630A>G | CA414797046 | MT-ATP6 | c.104A>G (p.Lys35Arg) | |
| MT | m.8630A>T | CA414797049 | MT-ATP6 | c.104A>T (p.Lys35Ile) | |
| MT | m.8631A= | CA2499565804 | MT-ATP6 | c.105A= (p.Lys35=) | |
| MT | m.8631A>C | CA414797051 | MT-ATP6 | c.105A>C (p.Lys35Asn) | |
| MT | m.8631A>G | CA913179499 | MT-ATP6 | c.105A>G (p.Lys35=) | dbSNP |
| MT | m.8631A>T | CA414797055 | MT-ATP6 | c.105A>T (p.Lys35Asn) | |
| MT | m.8632T>A | CA414797058 | MT-ATP6 | c.106T>A (p.Tyr36Asn) | |
| MT | m.8632T>C | CA414797060 | MT-ATP6 | c.106T>C (p.Tyr36His) | ClinVar dbSNP |
| MT | m.8632T>G | CA414797063 | MT-ATP6 | c.106T>G (p.Tyr36Asp) | |
| MT | m.8632T= | CA2499565806 | MT-ATP6 | c.106T= (p.Tyr36=) | |
| MT | m.8633A= | CA2499565807 | MT-ATP6 | c.107A= (p.Tyr36=) | |
| MT | m.8633A>C | CA414797067 | MT-ATP6 | c.107A>C (p.Tyr36Ser) | |
| MT | m.8633A>G | CA414797069 | MT-ATP6 | c.107A>G (p.Tyr36Cys) | dbSNP |
| MT | m.8633A>T | CA414797072 | MT-ATP6 | c.107A>T (p.Tyr36Phe) | |
| MT | m.8634T>A | CA414797076 | MT-ATP6 | c.108T>A (p.Tyr36Ter) | |
| MT | m.8634T>C | CA913179512 | MT-ATP6 | c.108T>C (p.Tyr36=) | dbSNP |
| MT | m.8634T>G | CA414797078 | MT-ATP6 | c.108T>G (p.Tyr36Ter) | |
| MT | m.8634T= | CA2499565808 | MT-ATP6 | c.108T= (p.Tyr36=) | |
| MT | m.8635C>A | CA414797082 | MT-ATP6 | c.109C>A (p.Leu37Ile) | |
| MT | m.8635C= | CA2499565810 | MT-ATP6 | c.109C= (p.Leu37=) | |
| MT | m.8635C>G | CA414797088 | MT-ATP6 | c.109C>G (p.Leu37Val) | |
| MT | m.8635C>T | CA414797085 | MT-ATP6 | c.109C>T (p.Leu37Phe) | ClinVar dbSNP |
| MT | m.8636T>A | CA414797090 | MT-ATP6 | c.110T>A (p.Leu37His) | |
| MT | m.8636T>C | CA414797092 | MT-ATP6 | c.110T>C (p.Leu37Pro) | ClinVar dbSNP |
| MT | m.8636T>G | CA414797096 | MT-ATP6 | c.110T>G (p.Leu37Arg) | |
| MT | m.8636T= | CA2573329969 | MT-ATP6 | c.110T= (p.Leu37=) | |
| MT | m.8637C>A | CA913179515 | MT-ATP6 | c.111C>A (p.Leu37=) | |
| MT | m.8637C= | CA2573329970 | MT-ATP6 | c.111C= (p.Leu37=) | |
| MT | m.8637C>G | CA913179516 | MT-ATP6 | c.111C>G (p.Leu37=) | |
| MT | m.8637C>T | CA913179517 | MT-ATP6 | c.111C>T (p.Leu37=) | |
| MT | m.8638A= | CA2499565812 | MT-ATP6 | c.112A= (p.Ile38=) | |
| MT | m.8638A>C | CA414797099 | MT-ATP6 | c.112A>C (p.Ile38Leu) | |
| MT | m.8638A>G | CA414797102 | MT-ATP6 | c.112A>G (p.Ile38Val) | ClinVar dbSNP |
| MT | m.8638A>T | CA414797105 | MT-ATP6 | c.112A>T (p.Ile38Phe) | |
| MT | m.8639T>A | CA414797108 | MT-ATP6 | c.113T>A (p.Ile38Asn) | |
| MT | m.8639T>C | CA337097950 | MT-ATP6 | c.113T>C (p.Ile38Thr) | ClinVar dbSNP |
| MT | m.8639T>G | CA414797113 | MT-ATP6 | c.113T>G (p.Ile38Ser) | |
| MT | m.8639T= | CA2499565814 | MT-ATP6 | c.113T= (p.Ile38=) | |
| MT | m.8640C>A | CA913179520 | MT-ATP6 | c.114C>A (p.Ile38=) | |
| MT | m.8640C= | CA2573329973 | MT-ATP6 | c.114C= (p.Ile38=) | |
| MT | m.8640C>G | CA414797115 | MT-ATP6 | c.114C>G (p.Ile38Met) | |
| MT | m.8640C>T | CA913179519 | MT-ATP6 | c.114C>T (p.Ile38=) | |
| MT | m.8641A= | CA2499565816 | MT-ATP6 | c.115A= (p.Asn39=) | |
| MT | m.8641A>C | CA414797124 | MT-ATP6 | c.115A>C (p.Asn39His) | |
| MT | m.8641A>G | CA414797121 | MT-ATP6 | c.115A>G (p.Asn39Asp) | ClinVar dbSNP |
| MT | m.8641A>T | CA414797119 | MT-ATP6 | c.115A>T (p.Asn39Tyr) | |
| MT | m.8642del | CA2573105021 | MT-ATP6 | c.116del (p.Asn39ThrfsTer4) | |
| MT | m.8642A= | CA2499565818 | MT-ATP6 | c.116A= (p.Asn39=) | |
| MT | m.8642A>C | CA414797128 | MT-ATP6 | c.116A>C (p.Asn39Thr) | ClinVar dbSNP |
| MT | m.8642A>G | CA414797132 | MT-ATP6 | c.116A>G (p.Asn39Ser) | ClinVar dbSNP |
| MT | m.8642A>T | CA414797130 | MT-ATP6 | c.116A>T (p.Asn39Ile) | |
| MT | m.8643C>A | CA414797135 | MT-ATP6 | c.117C>A (p.Asn39Lys) | |
| MT | m.8643C= | CA2499565819 | MT-ATP6 | c.117C= (p.Asn39=) | |
| MT | m.8643C>G | CA414797138 | MT-ATP6 | c.117C>G (p.Asn39Lys) | |
| MT | m.8643C>T | CA913179524 | MT-ATP6 | c.117C>T (p.Asn39=) | dbSNP |
| MT | m.8644A= | CA2573329974 | MT-ATP6 | c.118A= (p.Asn40=) | |
| MT | m.8644A>C | CA414797141 | MT-ATP6 | c.118A>C (p.Asn40His) | |
| MT | m.8644A>G | CA414797143 | MT-ATP6 | c.118A>G (p.Asn40Asp) | dbSNP |
| MT | m.8644A>T | CA414797146 | MT-ATP6 | c.118A>T (p.Asn40Tyr) | |
| MT | m.8645A= | CA2499565821 | MT-ATP6 | c.119A= (p.Asn40=) | |
| MT | m.8645A>C | CA414797149 | MT-ATP6 | c.119A>C (p.Asn40Thr) | |
| MT | m.8645A>G | CA414797151 | MT-ATP6 | c.119A>G (p.Asn40Ser) | dbSNP |
| MT | m.8645A>T | CA414797154 | MT-ATP6 | c.119A>T (p.Asn40Ile) | |
| MT | m.8646C>A | CA414797158 | MT-ATP6 | c.120C>A (p.Asn40Lys) | |
| MT | m.8646C= | CA2499565822 | MT-ATP6 | c.120C= (p.Asn40=) | |
| MT | m.8646C>G | CA414797160 | MT-ATP6 | c.120C>G (p.Asn40Lys) | |
| MT | m.8646C>T | CA337097952 | MT-ATP6 | c.120C>T (p.Asn40=) | dbSNP |
| MT | m.8647C>A | CA913179527 | MT-ATP6 | c.121C>A (p.Arg41=) | |
| MT | m.8647C= | CA2499565823 | MT-ATP6 | c.121C= (p.Arg41=) | |
| MT | m.8647C>G | CA337097954 | MT-ATP6 | c.121C>G (p.Arg41Gly) | dbSNP |
| MT | m.8647C>T | CA414797167 | MT-ATP6 | c.121C>T (p.Arg41Ter) | |
| MT | m.8648G>A | CA337097956 | MT-ATP6 | c.122G>A (p.Arg41Gln) | ClinVar dbSNP |
| MT | m.8648G>C | CA414797170 | MT-ATP6 | c.122G>C (p.Arg41Pro) | |
| MT | m.8648G= | CA2499565824 | MT-ATP6 | c.122G= (p.Arg41=) | |
| MT | m.8648G>T | CA414797171 | MT-ATP6 | c.122G>T (p.Arg41Leu) | |
| MT | m.8649A= | CA2573329977 | MT-ATP6 | c.123A= (p.Arg41=) | |
| MT | m.8649A>C | CA913179532 | MT-ATP6 | c.123A>C (p.Arg41=) | |
| MT | m.8649A>G | CA913179530 | MT-ATP6 | c.123A>G (p.Arg41=) | |
| MT | m.8649A>T | CA913179529 | MT-ATP6 | c.123A>T (p.Arg41=) | |
| MT | m.8650C>A | CA414797172 | MT-ATP6 | c.124C>A (p.Leu42Ile) | |
| MT | m.8650C= | CA2499565826 | MT-ATP6 | c.124C= (p.Leu42=) | |
| MT | m.8650C>G | CA414797173 | MT-ATP6 | c.124C>G (p.Leu42Val) | |
| MT | m.8650C>T | CA913179533 | MT-ATP6 | c.124C>T (p.Leu42=) | dbSNP |
| MT | m.8651T>A | CA414797176 | MT-ATP6 | c.125T>A (p.Leu42Gln) | |
| MT | m.8651T>C | CA414797179 | MT-ATP6 | c.125T>C (p.Leu42Pro) | ClinVar dbSNP |
| MT | m.8651T>G | CA414797184 | MT-ATP6 | c.125T>G (p.Leu42Arg) | |
| MT | m.8651T= | CA2499565828 | MT-ATP6 | c.125T= (p.Leu42=) | |
| MT | m.8652A= | CA2499565830 | MT-ATP6 | c.126A= (p.Leu42=) | |
| MT | m.8652A>C | CA913179543 | MT-ATP6 | c.126A>C (p.Leu42=) | |
| MT | m.8652A>G | CA337097969 | MT-ATP6 | c.126A>G (p.Leu42=) | dbSNP |
| MT | m.8652A>T | CA913179542 | MT-ATP6 | c.126A>T (p.Leu42=) | |
| MT | m.8653A= | CA2499565832 | MT-ATP6 | c.127A= (p.Ile43=) | |
| MT | m.8653A>C | CA414797189 | MT-ATP6 | c.127A>C (p.Ile43Leu) | |
| MT | m.8653A>G | CA414797193 | MT-ATP6 | c.127A>G (p.Ile43Val) | ClinVar dbSNP |
| MT | m.8653A>T | CA414797195 | MT-ATP6 | c.127A>T (p.Ile43Phe) | |
| MT | m.8654T>A | CA414797202 | MT-ATP6 | c.128T>A (p.Ile43Asn) | |
| MT | m.8654T>C | CA337097972 | MT-ATP6 | c.128T>C (p.Ile43Thr) | ClinVar dbSNP |
| MT | m.8654T>G | CA414797197 | MT-ATP6 | c.128T>G (p.Ile43Ser) | |
| MT | m.8654T= | CA2499565834 | MT-ATP6 | c.128T= (p.Ile43=) | |
| MT | m.8655C>A | CA913179551 | MT-ATP6 | c.129C>A (p.Ile43=) | |
| MT | m.8655C= | CA2499565836 | MT-ATP6 | c.129C= (p.Ile43=) | |
| MT | m.8655C>G | CA414797205 | MT-ATP6 | c.129C>G (p.Ile43Met) | |
| MT | m.8655C>T | CA337097975 | MT-ATP6 | c.129C>T (p.Ile43=) | dbSNP |
| MT | m.8656A= | CA2499565838 | MT-ATP6 | c.130A= (p.Thr44=) | |
| MT | m.8656A>C | CA414797212 | MT-ATP6 | c.130A>C (p.Thr44Pro) | |
| MT | m.8656A>G | CA414797214 | MT-ATP6 | c.130A>G (p.Thr44Ala) | ClinVar dbSNP |
| MT | m.8656A>T | CA414797216 | MT-ATP6 | c.130A>T (p.Thr44Ser) | |
| MT | m.8657C>A | CA414797219 | MT-ATP6 | c.131C>A (p.Thr44Asn) | |
| MT | m.8657C= | CA2499565840 | MT-ATP6 | c.131C= (p.Thr44=) | |
| MT | m.8657C>G | CA414797223 | MT-ATP6 | c.131C>G (p.Thr44Ser) | |
| MT | m.8657C>T | CA414797229 | MT-ATP6 | c.131C>T (p.Thr44Ile) | ClinVar dbSNP |
| MT | m.8658C>A | CA913179559 | MT-ATP6 | c.132C>A (p.Thr44=) | |
| MT | m.8658C= | CA2499565842 | MT-ATP6 | c.132C= (p.Thr44=) | |
| MT | m.8658C>G | CA913179557 | MT-ATP6 | c.132C>G (p.Thr44=) | |
| MT | m.8658C>T | CA913179556 | MT-ATP6 | c.132C>T (p.Thr44=) | dbSNP |
| MT | m.8659A= | CA2499565844 | MT-ATP6 | c.133A= (p.Thr45=) | |
| MT | m.8659A>C | CA414797231 | MT-ATP6 | c.133A>C (p.Thr45Pro) | |
| MT | m.8659A>G | CA337097977 | MT-ATP6 | c.133A>G (p.Thr45Ala) | ClinVar dbSNP |
| MT | m.8659A>T | CA414797235 | MT-ATP6 | c.133A>T (p.Thr45Ser) | |
| MT | m.8660C>A | CA414797244 | MT-ATP6 | c.134C>A (p.Thr45Asn) | |
| MT | m.8660C= | CA2499565846 | MT-ATP6 | c.134C= (p.Thr45=) | |
| MT | m.8660C>G | CA414797238 | MT-ATP6 | c.134C>G (p.Thr45Ser) | |
| MT | m.8660C>T | CA414797240 | MT-ATP6 | c.134C>T (p.Thr45Ile) | dbSNP |
| MT | m.8661C>A | CA913179564 | MT-ATP6 | c.135C>A (p.Thr45=) | |
| MT | m.8661C= | CA2499565848 | MT-ATP6 | c.135C= (p.Thr45=) | |
| MT | m.8661C>G | CA913179563 | MT-ATP6 | c.135C>G (p.Thr45=) | |
| MT | m.8661C>T | CA913179561 | MT-ATP6 | c.135C>T (p.Thr45=) | dbSNP |
| MT | m.8662C>A | CA414797248 | MT-ATP6 | c.136C>A (p.Gln46Lys) | |
| MT | m.8662C= | CA2573329988 | MT-ATP6 | c.136C= (p.Gln46=) | |
| MT | m.8662C>G | CA414797250 | MT-ATP6 | c.136C>G (p.Gln46Glu) | |
| MT | m.8662C>T | CA414797253 | MT-ATP6 | c.136C>T (p.Gln46Ter) | |
| MT | m.8663A= | CA2573329990 | MT-ATP6 | c.137A= (p.Gln46=) | |
| MT | m.8663A>C | CA414797256 | MT-ATP6 | c.137A>C (p.Gln46Pro) | |
| MT | m.8663A>G | CA414797257 | MT-ATP6 | c.137A>G (p.Gln46Arg) | |
| MT | m.8663A>T | CA414797261 | MT-ATP6 | c.137A>T (p.Gln46Leu) | |
| MT | m.8664A= | CA2573329992 | MT-ATP6 | c.138A= (p.Gln46=) | |
| MT | m.8664A>C | CA414797264 | MT-ATP6 | c.138A>C (p.Gln46His) | |
| MT | m.8664A>G | CA913179569 | MT-ATP6 | c.138A>G (p.Gln46=) | |
| MT | m.8664A>T | CA414797267 | MT-ATP6 | c.138A>T (p.Gln46His) | |
| MT | m.8665C>A | CA414797271 | MT-ATP6 | c.139C>A (p.Gln47Lys) | |
| MT | m.8665C= | CA2573329996 | MT-ATP6 | c.139C= (p.Gln47=) | |
| MT | m.8665C>G | CA414797273 | MT-ATP6 | c.139C>G (p.Gln47Glu) | |
| MT | m.8665C>T | CA414797276 | MT-ATP6 | c.139C>T (p.Gln47Ter) | |
| MT | m.8666A= | CA2499565849 | MT-ATP6 | c.140A= (p.Gln47=) | |
| MT | m.8666A>C | CA414797281 | MT-ATP6 | c.140A>C (p.Gln47Pro) | |
| MT | m.8666A>G | CA414797282 | MT-ATP6 | c.140A>G (p.Gln47Arg) | ClinVar dbSNP |
| MT | m.8666A>T | CA414797278 | MT-ATP6 | c.140A>T (p.Gln47Leu) | |
| MT | m.8667A= | CA2499565852 | MT-ATP6 | c.141A= (p.Gln47=) | |
| MT | m.8667A>C | CA414797284 | MT-ATP6 | c.141A>C (p.Gln47His) | |
| MT | m.8667A>G | CA913179577 | MT-ATP6 | c.141A>G (p.Gln47=) | dbSNP |
| MT | m.8667A>T | CA414797283 | MT-ATP6 | c.141A>T (p.Gln47His) | |
| MT | m.8668T>A | CA414797287 | MT-ATP6 | c.142T>A (p.Ter48Arg) | |
| MT | m.8668T>C | CA414797290 | MT-ATP6 | c.142T>C (p.Ter48Arg) | ClinVar dbSNP |
| MT | m.8668T>G | CA414797292 | MT-ATP6 | c.142T>G (p.Ter48Gly) | |
| MT | m.8668T= | CA414797294 | MT-ATP6 | c.142T= (p.Ter48=) | |
| MT | m.8669G>A | CA414797297 | MT-ATP6 | c.143G>A (p.Ter48=) | |
| MT | m.8669G>C | CA414797300 | MT-ATP6 | c.143G>C (p.Ter48Ser) | ClinVar dbSNP |
| MT | m.8669G= | CA414797302 | MT-ATP6 | c.143G= (p.Ter48=) | |
| MT | m.8669G>T | CA414797304 | MT-ATP6 | c.143G>T (p.Ter48Leu) | |
| MT | m.8670A= | CA414797318 | MT-ATP6 | c.144A= (p.Ter48=) | |
| MT | m.8670A>C | CA414797315 | MT-ATP6 | c.144A>C (p.Ter48Cys) | |
| MT | m.8670A>G | CA414797312 | MT-ATP6 | c.144A>G (p.Ter48Trp) | dbSNP COSMIC COSMIC |
| MT | m.8670A>T | CA414797309 | MT-ATP6 | c.144A>T (p.Ter48Cys) | |
| MT | m.8671C>A | CA414797320 | MT-ATP6 | c.145C>A (p.Leu49Ile) | |
| MT | m.8671C= | CA2499565855 | MT-ATP6 | c.145C= (p.Leu49=) | |
| MT | m.8671C>G | CA414797323 | MT-ATP6 | c.145C>G (p.Leu49Val) | |
| MT | m.8671C>T | CA913179583 | MT-ATP6 | c.145C>T (p.Leu49=) | dbSNP |
| MT | m.8672T>A | CA414797327 | MT-ATP6 | c.146T>A (p.Leu49Gln) | |
| MT | m.8672T>C | CA414797329 | MT-ATP6 | c.146T>C (p.Leu49Pro) | |
| MT | m.8672T>G | CA414797334 | MT-ATP6 | c.146T>G (p.Leu49Arg) | |
| MT | m.8672T= | CA2573330001 | MT-ATP6 | c.146T= (p.Leu49=) | |
| MT | m.8673A= | CA2499565856 | MT-ATP6 | c.147A= (p.Leu49=) | |
| MT | m.8673A>C | CA913179588 | MT-ATP6 | c.147A>C (p.Leu49=) | |
| MT | m.8673A>G | CA913179586 | MT-ATP6 | c.147A>G (p.Leu49=) | dbSNP |
| MT | m.8673A>T | CA913179587 | MT-ATP6 | c.147A>T (p.Leu49=) | |
| MT | m.8674A= | CA2499565858 | MT-ATP6 | c.148A= (p.Ile50=) | |
| MT | m.8674A>C | CA414797337 | MT-ATP6 | c.148A>C (p.Ile50Leu) | |
| MT | m.8674A>G | CA414797340 | MT-ATP6 | c.148A>G (p.Ile50Val) | dbSNP |
| MT | m.8674A>T | CA414797344 | MT-ATP6 | c.148A>T (p.Ile50Phe) | |
| MT | m.8675T>A | CA414797347 | MT-ATP6 | c.149T>A (p.Ile50Asn) | |
| MT | m.8675T>C | CA414797348 | MT-ATP6 | c.149T>C (p.Ile50Thr) | |
| MT | m.8675T>G | CA414797352 | MT-ATP6 | c.149T>G (p.Ile50Ser) | |
| MT | m.8675T= | CA2513626745 | MT-ATP6 | c.149T= (p.Ile50=) | |
| MT | m.8676C>A | CA913179593 | MT-ATP6 | c.150C>A (p.Ile50=) | |
| MT | m.8676C= | CA2499565859 | MT-ATP6 | c.150C= (p.Ile50=) | |
| MT | m.8676C>G | CA414797356 | MT-ATP6 | c.150C>G (p.Ile50Met) | |
| MT | m.8676C>T | CA913179594 | MT-ATP6 | c.150C>T (p.Ile50=) | dbSNP |
| MT | m.8677A= | CA2573330007 | MT-ATP6 | c.151A= (p.Lys51=) | |
| MT | m.8677A>C | CA414797361 | MT-ATP6 | c.151A>C (p.Lys51Gln) | |
| MT | m.8677A>G | CA414797364 | MT-ATP6 | c.151A>G (p.Lys51Glu) | |
| MT | m.8677A>T | CA414797359 | MT-ATP6 | c.151A>T (p.Lys51Ter) | |
| MT | m.8678A= | CA2573330008 | MT-ATP6 | c.152A= (p.Lys51=) | |
| MT | m.8678A>C | CA414797368 | MT-ATP6 | c.152A>C (p.Lys51Thr) | |
| MT | m.8678A>G | CA414797378 | MT-ATP6 | c.152A>G (p.Lys51Arg) | |
| MT | m.8678A>T | CA414797381 | MT-ATP6 | c.152A>T (p.Lys51Ile) | |
| MT | m.8688_8778del | CA2573105022 | MT-ATP6 | c.162_252del (p.Lys55SerfsTer16) | |
| MT | m.8679A= | CA2499565861 | MT-ATP6 | c.153A= (p.Lys51=) | |
| MT | m.8679A>C | CA337097980 | MT-ATP6 | c.153A>C (p.Lys51Asn) | ClinVar dbSNP |
| MT | m.8679A>G | CA913179597 | MT-ATP6 | c.153A>G (p.Lys51=) | dbSNP |
| MT | m.8679A>T | CA337097982 | MT-ATP6 | c.153A>T (p.Lys51Asn) | |
| MT | m.8680C>A | CA414797384 | MT-ATP6 | c.154C>A (p.Leu52Ile) | |
| MT | m.8680C= | CA2573330012 | MT-ATP6 | c.154C= (p.Leu52=) | |
| MT | m.8680C>G | CA414797382 | MT-ATP6 | c.154C>G (p.Leu52Val) | |
| MT | m.8680C>T | CA913179598 | MT-ATP6 | c.154C>T (p.Leu52=) | |
| MT | m.8681T>A | CA414797389 | MT-ATP6 | c.155T>A (p.Leu52Gln) | |
| MT | m.8681T>C | CA414797390 | MT-ATP6 | c.155T>C (p.Leu52Pro) | ClinVar dbSNP |
| MT | m.8681T>G | CA414797392 | MT-ATP6 | c.155T>G (p.Leu52Arg) | dbSNP |
| MT | m.8681T= | CA2499565864 | MT-ATP6 | c.155T= (p.Leu52=) | |
| MT | m.8682A= | CA2499565866 | MT-ATP6 | c.156A= (p.Leu52=) | |
| MT | m.8682A>C | CA913179601 | MT-ATP6 | c.156A>C (p.Leu52=) | |
| MT | m.8682A>G | CA913179600 | MT-ATP6 | c.156A>G (p.Leu52=) | dbSNP |
| MT | m.8682A>T | CA913179599 | MT-ATP6 | c.156A>T (p.Leu52=) | |
| MT | m.8683A= | CA2499565868 | MT-ATP6 | c.157A= (p.Thr53=) | |
| MT | m.8683A>C | CA414797405 | MT-ATP6 | c.157A>C (p.Thr53Pro) | |
| MT | m.8683A>G | CA414797408 | MT-ATP6 | c.157A>G (p.Thr53Ala) | ClinVar dbSNP |
| MT | m.8683A>T | CA414797410 | MT-ATP6 | c.157A>T (p.Thr53Ser) | |
| MT | m.8684C>A | CA414797414 | MT-ATP6 | c.158C>A (p.Thr53Asn) | |
| MT | m.8684C= | CA2499565870 | MT-ATP6 | c.158C= (p.Thr53=) | |
| MT | m.8684C>G | CA414797419 | MT-ATP6 | c.158C>G (p.Thr53Ser) | |
| MT | m.8684C>T | CA337097986 | MT-ATP6 | c.158C>T (p.Thr53Ile) | ClinVar dbSNP |
| MT | m.8685C>A | CA913179605 | MT-ATP6 | c.159C>A (p.Thr53=) | |
| MT | m.8685C= | CA2573330017 | MT-ATP6 | c.159C= (p.Thr53=) | |
| MT | m.8685C>G | CA913179603 | MT-ATP6 | c.159C>G (p.Thr53=) | |
| MT | m.8685C>T | CA913179602 | MT-ATP6 | c.159C>T (p.Thr53=) | |
| MT | m.8686T>A | CA414797423 | MT-ATP6 | c.160T>A (p.Ser54Thr) | ClinVar dbSNP |
| MT | m.8686T>C | CA414797425 | MT-ATP6 | c.160T>C (p.Ser54Pro) | ClinVar dbSNP |
| MT | m.8686T>G | CA414797428 | MT-ATP6 | c.160T>G (p.Ser54Ala) | |
| MT | m.8686T= | CA2499565872 | MT-ATP6 | c.160T= (p.Ser54=) | |
| MT | m.8687C>A | CA414797433 | MT-ATP6 | c.161C>A (p.Ser54Ter) | |
| MT | m.8687C= | CA2499565880 | MT-ATP6 | c.161C= (p.Ser54=) | |
| MT | m.8687C>G | CA414797435 | MT-ATP6 | c.161C>G (p.Ser54Ter) | |
| MT | m.8687C>T | CA414797438 | MT-ATP6 | c.161C>T (p.Ser54Leu) | dbSNP |
| MT | m.8687_8688insT | CA2740098150 | MT-ATP6 | c.161_162insT (p.Gln56ThrfsTer9) | |
| MT | m.8688A= | CA2499565881 | MT-ATP6 | c.162A= (p.Ser54=) | |
| MT | m.8688A>C | CA913179615 | MT-ATP6 | c.162A>C (p.Ser54=) | dbSNP |
| MT | m.8688A>G | CA913179612 | MT-ATP6 | c.162A>G (p.Ser54=) | |
| MT | m.8688A>T | CA913179613 | MT-ATP6 | c.162A>T (p.Ser54=) | |
| MT | m.8689A= | CA2573330021 | MT-ATP6 | c.163A= (p.Lys55=) | |
| MT | m.8689A>C | CA414797443 | MT-ATP6 | c.163A>C (p.Lys55Gln) | |
| MT | m.8689A>G | CA414797445 | MT-ATP6 | c.163A>G (p.Lys55Glu) | |
| MT | m.8689A>T | CA414797446 | MT-ATP6 | c.163A>T (p.Lys55Ter) | |
| MT | m.8690A= | CA2573330023 | MT-ATP6 | c.164A= (p.Lys55=) | |
| MT | m.8690A>C | CA414797451 | MT-ATP6 | c.164A>C (p.Lys55Thr) | |
| MT | m.8690A>G | CA414797453 | MT-ATP6 | c.164A>G (p.Lys55Arg) | |
| MT | m.8690A>T | CA414797455 | MT-ATP6 | c.164A>T (p.Lys55Ile) | |
| MT | m.8691A= | CA2499565883 | MT-ATP6 | c.165A= (p.Lys55=) | |
| MT | m.8691A>C | CA414797459 | MT-ATP6 | c.165A>C (p.Lys55Asn) | |
| MT | m.8691A>G | CA913179621 | MT-ATP6 | c.165A>G (p.Lys55=) | dbSNP |
| MT | m.8691A>T | CA414797461 | MT-ATP6 | c.165A>T (p.Lys55Asn) | |
| MT | m.8692C>A | CA414797464 | MT-ATP6 | c.166C>A (p.Gln56Lys) | |
| MT | m.8692C= | CA2573330024 | MT-ATP6 | c.166C= (p.Gln56=) | |
| MT | m.8692C>G | CA414797469 | MT-ATP6 | c.166C>G (p.Gln56Glu) | |
| MT | m.8692C>T | CA414797466 | MT-ATP6 | c.166C>T (p.Gln56Ter) | |
| MT | m.8693A= | CA2573330025 | MT-ATP6 | c.167A= (p.Gln56=) | |
| MT | m.8693A>C | CA414797473 | MT-ATP6 | c.167A>C (p.Gln56Pro) | |
| MT | m.8693A>G | CA414797477 | MT-ATP6 | c.167A>G (p.Gln56Arg) | |
| MT | m.8693A>T | CA414797474 | MT-ATP6 | c.167A>T (p.Gln56Leu) | |
| MT | m.8694A= | CA2499565884 | MT-ATP6 | c.168A= (p.Gln56=) | |
| MT | m.8694A>C | CA414797480 | MT-ATP6 | c.168A>C (p.Gln56His) | |
| MT | m.8694A>G | CA913179623 | MT-ATP6 | c.168A>G (p.Gln56=) | dbSNP |
| MT | m.8694A>T | CA414797482 | MT-ATP6 | c.168A>T (p.Gln56His) | dbSNP |
| MT | m.8695A= | CA2573330026 | MT-ATP6 | c.169A= (p.Met57=) | |
| MT | m.8695A>C | CA414797486 | MT-ATP6 | c.169A>C (p.Met57Leu) | |
| MT | m.8695A>G | CA414797488 | MT-ATP6 | c.169A>G (p.Met57Val) | |
| MT | m.8695A>T | CA414797490 | MT-ATP6 | c.169A>T (p.Met57Leu) | |
| MT | m.8696T>A | CA414797492 | MT-ATP6 | c.170T>A (p.Met57Lys) | |
| MT | m.8696T>C | CA414797493 | MT-ATP6 | c.170T>C (p.Met57Thr) | dbSNP |
| MT | m.8696T>G | CA414797494 | MT-ATP6 | c.170T>G (p.Met57Arg) | |
| MT | m.8696T= | CA2499565886 | MT-ATP6 | c.170T= (p.Met57=) | |
| MT | m.8697G>A | CA337097989 | MT-ATP6 | c.171G>A (p.Met57Ile) | dbSNP |
| MT | m.8697G>C | CA414797499 | MT-ATP6 | c.171G>C (p.Met57Ile) | |
| MT | m.8697G= | CA2499565888 | MT-ATP6 | c.171G= (p.Met57=) | |
| MT | m.8697G>T | CA414797501 | MT-ATP6 | c.171G>T (p.Met57Ile) | ClinVar dbSNP |
| MT | m.8698A= | CA2573330027 | MT-ATP6 | c.172A= (p.Ile58=) | |
| MT | m.8698A>C | CA414797509 | MT-ATP6 | c.172A>C (p.Ile58Leu) | |
| MT | m.8698A>G | CA414797507 | MT-ATP6 | c.172A>G (p.Ile58Val) | dbSNP |
| MT | m.8698A>T | CA414797504 | MT-ATP6 | c.172A>T (p.Ile58Leu) | |
| MT | m.8699T>A | CA414797513 | MT-ATP6 | c.173T>A (p.Ile58Lys) | |
| MT | m.8699T>C | CA414797515 | MT-ATP6 | c.173T>C (p.Ile58Thr) | ClinVar dbSNP |
| MT | m.8699T>G | CA414797518 | MT-ATP6 | c.173T>G (p.Ile58Arg) | |
| MT | m.8699T= | CA2499565890 | MT-ATP6 | c.173T= (p.Ile58=) | |
| MT | m.8700A= | CA2499565892 | MT-ATP6 | c.174A= (p.Ile58=) | |
| MT | m.8700A>C | CA913179640 | MT-ATP6 | c.174A>C (p.Ile58=) | |
| MT | m.8700A>G | CA414797522 | MT-ATP6 | c.174A>G (p.Ile58Met) | dbSNP |
| MT | m.8700A>T | CA913179638 | MT-ATP6 | c.174A>T (p.Ile58=) | ClinVar dbSNP |
| MT | m.8701A= | CA2499565785 | MT-ATP6 | c.175A= (p.Thr59=) | |
| MT | m.8701A>C | CA414797525 | MT-ATP6 | c.175A>C (p.Thr59Pro) | dbSNP |
| MT | m.8701A>G | CA337097991 | MT-ATP6 | c.175A>G (p.Thr59Ala) | ClinVar dbSNP |
| MT | m.8701A>T | CA414797530 | MT-ATP6 | c.175A>T (p.Thr59Ser) | |
| MT | m.8702C>A | CA414797534 | MT-ATP6 | c.176C>A (p.Thr59Asn) | |
| MT | m.8702C= | CA2499565787 | MT-ATP6 | c.176C= (p.Thr59=) | |
| MT | m.8702C>G | CA414797537 | MT-ATP6 | c.176C>G (p.Thr59Ser) | |
| MT | m.8702C>T | CA414797539 | MT-ATP6 | c.176C>T (p.Thr59Ile) | ClinVar dbSNP |
| MT | m.8703C>A | CA913179650 | MT-ATP6 | c.177C>A (p.Thr59=) | |
| MT | m.8703C= | CA2499565788 | MT-ATP6 | c.177C= (p.Thr59=) | |
| MT | m.8703C>G | CA913179649 | MT-ATP6 | c.177C>G (p.Thr59=) | |
| MT | m.8703C>T | CA913179648 | MT-ATP6 | c.177C>T (p.Thr59=) | dbSNP |
| MT | m.8704A= | CA2499565789 | MT-ATP6 | c.178A= (p.Ile60=) | |
| MT | m.8704A>C | CA414797546 | MT-ATP6 | c.178A>C (p.Ile60Leu) | |
| MT | m.8704A>G | CA10581258 | MT-ATP6 | c.178A>G (p.Ile60Val) | ClinVar dbSNP |
| MT | m.8704A>T | CA414797543 | MT-ATP6 | c.178A>T (p.Ile60Leu) | |
| MT | m.8705T>A | CA414797551 | MT-ATP6 | c.179T>A (p.Ile60Lys) | |
| MT | m.8705T>C | CA337097996 | MT-ATP6 | c.179T>C (p.Ile60Thr) | ClinVar dbSNP |
| MT | m.8705T>G | CA414797555 | MT-ATP6 | c.179T>G (p.Ile60Arg) | |
| MT | m.8705T= | CA2499565791 | MT-ATP6 | c.179T= (p.Ile60=) | |
| MT | m.8705_8706insTTAAGGA | CA2740098151 | MT-ATP6 | c.179_180insTTAAGGA (p.His61Ter) | |
| MT | m.8706A= | CA2499565793 | MT-ATP6 | c.180A= (p.Ile60=) | |
| MT | m.8706A>C | CA913179656 | MT-ATP6 | c.180A>C (p.Ile60=) | |
| MT | m.8706A>G | CA414797558 | MT-ATP6 | c.180A>G (p.Ile60Met) | dbSNP |
| MT | m.8706A>T | CA913179658 | MT-ATP6 | c.180A>T (p.Ile60=) | |
| MT | m.8707C>A | CA414797561 | MT-ATP6 | c.181C>A (p.His61Asn) | |
| MT | m.8707C= | CA2573330042 | MT-ATP6 | c.181C= (p.His61=) | |
| MT | m.8707C>G | CA414797563 | MT-ATP6 | c.181C>G (p.His61Asp) | |
| MT | m.8707C>T | CA414797566 | MT-ATP6 | c.181C>T (p.His61Tyr) | |
| MT | m.8707_8708insTAG | CA2740098152 | MT-ATP6 | c.181_182insTAG (p.His61delinsLeuAsp) | |
| MT | m.8708A= | CA2573330044 | MT-ATP6 | c.182A= (p.His61=) | |
| MT | m.8708A>C | CA414797568 | MT-ATP6 | c.182A>C (p.His61Pro) | |
| MT | m.8708A>G | CA414797570 | MT-ATP6 | c.182A>G (p.His61Arg) | |
| MT | m.8708A>T | CA414797572 | MT-ATP6 | c.182A>T (p.His61Leu) | |
| MT | m.8709C>A | CA414797576 | MT-ATP6 | c.183C>A (p.His61Gln) | |
| MT | m.8709C= | CA2499565794 | MT-ATP6 | c.183C= (p.His61=) | |
| MT | m.8709C>G | CA414797579 | MT-ATP6 | c.183C>G (p.His61Gln) | |
| MT | m.8709C>T | CA913179662 | MT-ATP6 | c.183C>T (p.His61=) | dbSNP |
| MT | m.8710A= | CA2573330046 | MT-ATP6 | c.184A= (p.Asn62=) | |
| MT | m.8710A>C | CA414797583 | MT-ATP6 | c.184A>C (p.Asn62His) | |
| MT | m.8710A>G | CA414797585 | MT-ATP6 | c.184A>G (p.Asn62Asp) | |
| MT | m.8710A>T | CA414797584 | MT-ATP6 | c.184A>T (p.Asn62Tyr) | |
| MT | m.8711A= | CA2499565796 | MT-ATP6 | c.185A= (p.Asn62=) | |
| MT | m.8711A>C | CA414797588 | MT-ATP6 | c.185A>C (p.Asn62Thr) | |
| MT | m.8711A>G | CA414797591 | MT-ATP6 | c.185A>G (p.Asn62Ser) | ClinVar dbSNP |
| MT | m.8711A>T | CA414797592 | MT-ATP6 | c.185A>T (p.Asn62Ile) | |
| MT | m.8712C>A | CA414797595 | MT-ATP6 | c.186C>A (p.Asn62Lys) | |
| MT | m.8712C= | CA2573330047 | MT-ATP6 | c.186C= (p.Asn62=) | |
| MT | m.8712C>G | CA414797598 | MT-ATP6 | c.186C>G (p.Asn62Lys) | |
| MT | m.8712C>T | CA913179667 | MT-ATP6 | c.186C>T (p.Asn62=) | |
| MT | m.8713A= | CA2499565797 | MT-ATP6 | c.187A= (p.Thr63=) | |
| MT | m.8713A>C | CA414797602 | MT-ATP6 | c.187A>C (p.Thr63Pro) | |
| MT | m.8713A>G | CA414797603 | MT-ATP6 | c.187A>G (p.Thr63Ala) | ClinVar dbSNP |
| MT | m.8713A>T | CA414797608 | MT-ATP6 | c.187A>T (p.Thr63Ser) | |
| MT | m.8714C>A | CA414797611 | MT-ATP6 | c.188C>A (p.Thr63Asn) | |
| MT | m.8714C= | CA2499565799 | MT-ATP6 | c.188C= (p.Thr63=) | |
| MT | m.8714C>G | CA414797614 | MT-ATP6 | c.188C>G (p.Thr63Ser) | |
| MT | m.8714C>T | CA414797617 | MT-ATP6 | c.188C>T (p.Thr63Ile) | ClinVar dbSNP |
| MT | m.8715T>A | CA913179678 | MT-ATP6 | c.189T>A (p.Thr63=) | |
| MT | m.8715T>C | CA913179677 | MT-ATP6 | c.189T>C (p.Thr63=) | dbSNP |
| MT | m.8715T>G | CA913179674 | MT-ATP6 | c.189T>G (p.Thr63=) | |
| MT | m.8715T= | CA2499565801 | MT-ATP6 | c.189T= (p.Thr63=) | |
| MT | m.8716A= | CA2573330051 | MT-ATP6 | c.190A= (p.Lys64=) | |
| MT | m.8716A>C | CA414797626 | MT-ATP6 | c.190A>C (p.Lys64Gln) | |
| MT | m.8716A>G | CA414797623 | MT-ATP6 | c.190A>G (p.Lys64Glu) | |
| MT | m.8716A>T | CA414797620 | MT-ATP6 | c.190A>T (p.Lys64Ter) | |
| MT | m.8718del | CA2573104890 | MT-ATP6 | c.192del (p.Gly65AspfsTer8) | |
| MT | m.8717A= | CA2573330052 | MT-ATP6 | c.191A= (p.Lys64=) | |
| MT | m.8717A>C | CA414797632 | MT-ATP6 | c.191A>C (p.Lys64Thr) | |
| MT | m.8717A>G | CA414797629 | MT-ATP6 | c.191A>G (p.Lys64Arg) | |
| MT | m.8717A>T | CA414797633 | MT-ATP6 | c.191A>T (p.Lys64Ile) | |
| MT | m.8718A= | CA2499565803 | MT-ATP6 | c.192A= (p.Lys64=) | |
| MT | m.8718A>C | CA414797637 | MT-ATP6 | c.192A>C (p.Lys64Asn) | |
| MT | m.8718A>G | CA913179681 | MT-ATP6 | c.192A>G (p.Lys64=) | dbSNP |
| MT | m.8718A>T | CA414797639 | MT-ATP6 | c.192A>T (p.Lys64Asn) | |
| MT | m.8719G>A | CA337098000 | MT-ATP6 | c.193G>A (p.Gly65Arg) | ClinVar dbSNP |
| MT | m.8719G>C | CA414797644 | MT-ATP6 | c.193G>C (p.Gly65Arg) | |
| MT | m.8719G= | CA2499565805 | MT-ATP6 | c.193G= (p.Gly65=) | |
| MT | m.8719G>T | CA414797647 | MT-ATP6 | c.193G>T (p.Gly65Ter) | |
| MT | m.8720G>A | CA414797652 | MT-ATP6 | c.194G>A (p.Gly65Glu) | ClinVar dbSNP |
| MT | m.8720G>C | CA414797654 | MT-ATP6 | c.194G>C (p.Gly65Ala) | ClinVar dbSNP |
| MT | m.8720G= | CA2499565809 | MT-ATP6 | c.194G= (p.Gly65=) | |
| MT | m.8720G>T | CA414797656 | MT-ATP6 | c.194G>T (p.Gly65Val) |